Selcuk ERDEM, Samed VEREP, Öner ŞANLI, Faruk ÖZCAN

Von Hippel-Lindau Sendromu’nda Böbrek Tümörlerinin Yönetimi: Aynı Soyağacından Bir Aile İle Tek Merkez Deneyimi

Amaç: Genetik temelli herediter böbrek tümörü sendromlarından en sık görüleni Von Hippel- Lindau (VHL) sendromudur. Tekrarlayan böbrek tümörlerinin görüldüğü bu sendromda onkolojik sağkalıma ulaşılırken renal fonksiyonların korunması önem taşımaktadır. Bu çalışmada, VHL sendromlu aynı soyağacından bir aile irdelenerek bu sendromda böbrek tümörlerinin yönetimi araştırılmıştır. Gereç ve Yöntemler: VHL sendromunun otozomal dominant kalıtıldığı bir ailenin böbrek tümörü nedeniyle Ocak 2005 ve Aralık 2018 tarihleri arasında anabilimdalımızda takip ve/veya tedavi edilen 18 hastası bu çalışmada araştırıldı. Hastalara ait demografik, klinik, onkolojik ve renal fonksiyonel parametreler retrospektif olarak ortaya konuldu. Kansersiz sağkalım, hastaların her iki böbreğinde kist ve/veya tümör olmaması ya da girişim gerektirmeyen 3 cm’den küçük kist ve/veya tümör olması olarak tanımlandı. Kansere özgü sağkalım, böbrek tümörüne bağlı ölüm; genel sağkalım ise herhangi bir sebepten ölüm olarak tanımlandı. Tahmini glomerüler filtrasyon hızı (eGFR), Modification and Diet in Renal Disease (MDRD) formülüne göre hesaplandı. Hastalar, kuşaklarına göre üç farklı grupta değerlendirildi. Çalışmada incelenen örneklem sayısı düşük olduğu için karşılaştırmalı istatistiksel analiz yapılmadan tanımlayıcı istatistik yöntemler kullanıldı. Bulgular: Hastaların tanı zamanında ortanca yaşı 38 yıl iken; birinci, ikinci ve üçüncü kuşakta sırasıyla 49, 43.5 ve 24 yıl idi. Toplam 10 (%55.6) hastaya 21 böbrek tümörü operasyonu yapılırken; bunların 14’ü (%66.7) nefron koruyucu parsiyel, 7’si (%33.3) radikal nefrektomi idi. Toplam kohort için 10 yıllık kansersiz, kansere özgü ve genel sağkalım sırasıyla %37.3, %84.0 ve %84.0 iken bu parametreler sırasıyla birinci kuşakta %66.7, %66.7 ve %66.7, ikinci kuşakta %40, %90 ve %90, üçüncü kuşakta ise %80, %100 ve %100 idi. Tüm hastaların son takipte eGFR değeri ortanca 61 mL/min/1.73m2 bulunurken; birinci, ikinci ve üçüncü kuşakta sırasıyla 38, 60 ve 107 mL/min/1.73m2 idi. Birinci kuşakta 1 (%5.6) renal transplantasyon, ikinci kuşakta 1 (%5.6) hemodiyaliz olmak üzere toplam 2 (%11.1) hastaya renal replasman tedavisi uygulandı. Sonuç: Von Hippel-Lindau sendromunda uygun takip ve tedavi protokolü ile böbrek tümörlerinde onkolojik kontrol sağlanırken renal fonksiyonların replasman tedavilerine gerek kalmayacak düzeyde korunması mümkün görünmektedir.

Anahtar Kelimeler:

Von Hippel-Lindau Sendromu, Böbrek tümörü, Tedavi

The Management of Kidney Tumors in Von Hippel-Lindau Syndrome: Single Center Experience With A Family From Same Pedigree

Objective: Von Hippel-Lindau (VHL) syndrome is the most common genetic-based hereditary kidney tumor syndrome. Preserving renal function is important while obtaining oncological survival at this syndrome in which recurrent kidney tumors exist. In this study, the management of kidney tumors in VHL Syndrome was examined by evaluating a VHL family originated from same pedigree. Material and Methods: In this study, 18 individuals originated from an autosomal dominant inherited VHL syndrome family whose kidney tumors were managed in our department between January 2005 and December 2018 were investigated. The demographics, clinical oncological and renal functional parameters were retrospectively evaluated. Cancer free survival was defined as the absence of cyst or/and tumor in two kidneys or the presence of cyst or/and tumor less than 3 cm those need no intervention. Cancer specific survival was defined as death related to kidney cancer while overall survival was death from any cause other than cancer. Estimated glomerular filtration rate (eGFR) was calculated using Modification and Diet in Renal Disease (MDRD) formula. Patients were evaluated in three groups according to their generation. As the number of cases is small, descriptive statistical methods were used without performing any comparative statistical methods. Results: The median patient age at the diagnosis was 38 years and it was 49, 43.5 and 24 years for first, second and third generation, respectively. A total of 21 kidney tumor operations were performed in 10 (55.6%) patients. 14 (66.7%) and 7 (33.3%) of those operations were nephron sparing partial and radical nephrectomies, respectively. Estimated 10 years cancer free-, cancer specific- and overall survivals for overall cohort were 37.3%, 84.0% and 84.0%, respectively. These outcomes were found 66.7%, 66.7% and 66.7% for first generation, 40%, 90% and 90% for second generation and 80%, 100% and 100% for third generation, respectively. Median eGFR for overall cohort was 61 mL/min/1.73m2 while it was found 38, 60 and 107 mL/min/1.73m2 for first, second and third generations, respectively. A total of 2 (11.1%) patients received renal replacement treatment including 1 renal transplantation (5.6%) in first generation and 1 hemodialysis (5.6%) in second generation. Conclusion: With appropriate follow-up and treatment protocols, it seems that sparing renal functions without need for renal replacement treatments is possible while providing oncological control for kidney tumors in Von Hippel-Lindau Syndrome.

Keywords:

Von Hippel-Lindau Syndrome, Kidney Tumor, Treatment,

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